MCID: EMR002
MIFTS: 17

Emerinopathy

Categories: Rare diseases

Aliases & Classifications for Emerinopathy

MalaCards integrated aliases for Emerinopathy:

Name: Emerinopathy 54

Classifications:



Summaries for Emerinopathy

MalaCards based summary : Emerinopathy is related to muscular dystrophy and rigid spine muscular dystrophy 1. An important gene associated with Emerinopathy is EMD (Emerin), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Prophase. Related phenotype is muscle.

Related Diseases for Emerinopathy

Graphical network of the top 20 diseases related to Emerinopathy:



Diseases related to Emerinopathy

Symptoms & Phenotypes for Emerinopathy

MGI Mouse Phenotypes related to Emerinopathy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 EMD LMNA SUN2

Drugs & Therapeutics for Emerinopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Obeservatory for PAtients With Laminopathies and Emerinopathies) Recruiting NCT03058185

Search NIH Clinical Center for Emerinopathy

Genetic Tests for Emerinopathy

Anatomical Context for Emerinopathy

Publications for Emerinopathy

Articles related to Emerinopathy:

# Title Authors Year
1
Muscle MRI in female carriers of emerinopathy. ( 24118169 )
2013
2
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. ( 18646565 )
2007
3
Presence of emerinopathy in cases of rigid spine syndrome. ( 9829281 )
1998

Variations for Emerinopathy

Expression for Emerinopathy

Search GEO for disease gene expression data for Emerinopathy.

Pathways for Emerinopathy

GO Terms for Emerinopathy

Cellular components related to Emerinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear inner membrane GO:0005637 9.16 EMD SUN2
2 nuclear membrane GO:0031965 9.13 EMD LMNA SUN2
3 nuclear envelope GO:0005635 8.8 EMD LMNA SUN2

Biological processes related to Emerinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear envelope organization GO:0006998 8.96 LMNA SUN2
2 mitotic nuclear envelope reassembly GO:0007084 8.62 EMD LMNA

Sources for Emerinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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